Variant report

Variant	rs71414692
Chromosome Location	chr2:113487342-113487343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113299836..113301714-chr2:113487045..113489440,2	MCF-7	breast:
2	chr2:113401788..113407326-chr2:113480776..113487899,15	MCF-7	breast:
3	chr2:113297047..113302352-chr2:113483159..113487384,5	K562	blood:
4	chr2:113340008..113343992-chr2:113483304..113487579,6	K562	blood:
5	chr2:113482871..113484637-chr2:113485555..113488424,2	K562	blood:
6	chr2:113400910..113403720-chr2:113487016..113489171,3	K562	blood:
7	chr2:113338959..113342918-chr2:113483353..113487579,5	K562	blood:
8	chr2:113485399..113487990-chr2:113522114..113523918,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction
ENSG00000125630	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000169607	Chromatin interaction
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34017101	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113478600-113488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:113480000-113488200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:113481200-113487600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:113483000-113488200	Enhancers	Spleen	Spleen
5	chr2:113483600-113487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:113483800-113488200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:113484000-113487400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:113484200-113497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:113484400-113494200	Weak transcription	A549	lung
10	chr2:113484400-113494800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:113484400-113495000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:113484400-113495600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:113484400-113495600	Weak transcription	Thymus	Thymus
14	chr2:113484400-113495800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:113484400-113495800	Weak transcription	GM12878-XiMat	blood
16	chr2:113484400-113496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:113484600-113494200	Weak transcription	Fetal Thymus	thymus
19	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
20	chr2:113484800-113490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:113484800-113490400	Weak transcription	Fetal Brain Male	brain
22	chr2:113484800-113490400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:113484800-113494400	Weak transcription	NHEK	skin
24	chr2:113484800-113494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:113484800-113494800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:113484800-113495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:113484800-113496200	Weak transcription	NHDF-Ad	bronchial
28	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
29	chr2:113485000-113494800	Weak transcription	Dnd41	blood
30	chr2:113485200-113494800	Weak transcription	HMEC	breast
31	chr2:113485400-113487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:113486000-113491000	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:113486200-113487400	Enhancers	Adipose Nuclei	Adipose
34	chr2:113486200-113494400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:113486200-113494600	Weak transcription	Fetal Stomach	stomach
36	chr2:113486200-113495000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:113486400-113487400	Enhancers	Lung	lung
38	chr2:113486400-113490600	Weak transcription	Fetal Lung	lung
39	chr2:113486400-113491200	Weak transcription	Fetal Heart	heart
40	chr2:113486400-113495800	Weak transcription	HUVEC	blood vessel
41	chr2:113486600-113488200	Weak transcription	K562	blood
42	chr2:113486600-113496200	Weak transcription	Placenta	Placenta
43	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:113487000-113487400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr2:113487000-113487600	Enhancers	Primary hematopoietic stem cells	blood

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